“If our children get complaints, I want to have a plan ready.”

Gabrielle is 36 years old, married and has two small children aged almost 8 and 6. From her own childhood she has experienced that her senses work differently than in other children. She had poor eyesight and her hearing sometimes let her down. When she did her homework she fell asleep. Again and again. Everything took so much energy from her. And it still does. She now knows where her complaints come from. Gabrielle was diagnosed ADOA; a very rare hereditary eye disease. The chance of getting ADOA is 1 in 50.000.

“I always had the feeling that something was not right. The world passed me by and my behavior changed, because I simply didn't see it. It made me indifferent. For example, in class I was chatting and at eighteen I resisted anything that would be good for my eyes. I drank alcohol and was always out and about, but really I was just down in the dumps. At that age, imagine a life knowing that you will become nearly blind and deaf and that you will not be able to get a driver's license like your peers! I then saw 45 percent, but details were not spent on me. For example, I saw a lawn as a smooth green surface and I could not distinguish a blade of grass in it.” ADOA is a condition in which the fibers of the optic nerve shrink. As a result, the optic nerve becomes increasingly thin and vision steadily deteriorates.

ADOA+

In about 20 percent of patients, ADOA occurs in combination with other physical problems. This form is called ADOA+ and can cause deafness, muscle cramps, loss of strength and balance disorders. “About sixty people in the Netherlands have ADOA+. So few people, including me.” Yet Gabrielle was able to resign herself for a moment and accept that nothing can be done about it. Until now, there is no treatment that stops or cures ADOA. The damage to the optic nerve is irreversible. “I am committed to drawing more attention to this rare eye disease. That is why I founded the Cure ADOA Foundation together with four others. I am also very much looking for possible solutions, such as scientific research. If our children get complaints, I want to have a plan ready!”

Heredity

Gabrielle's father has the same eye disease. The future prospects are uncertain, for the whole family. “My eye disease has colored my life. I lost people because I didn't have the energy and resources to keep up with everyone.” Thinking about every activity you undertake, whether it succeeds at all and preparing for it takes a lot of energy. “Keeping a young family going is already top sport for someone with good eyesight. For someone with poor eyesight, it is like training for Olympic gold, because the information you receive visually is missing.” It doesn't stop Gabrielle from doing activities with her children. “For example, I put bright bathing suits on the children when we go swimming, so that I recognize them and I stand in the water with them for safety. If we go to Macdonalds, I'll take a picture of the menu so I can enlarge it and place an order.” She does not recognize the facial expressions of her children from a distance, but she does know who she is facing and whether they are angry or sad by the way they walk and by the lines of their bodies. Gabrielle functions, but in her own creative way.

go-getter

ADOA has already cost Gabrielle a lot. Most of all she lacks her full mobility. “I would have loved to get my driver's license. Being able to go somewhere quickly.” Yet the eye disease has also brought her beauty. “I am resourceful, creative and a very go-getter. When I was almost rejected five years ago, I sent 128 application letters just to get a job. I have dreams and ambitions. For example, I work for the class two days a week. A risky profession for someone who still sees 15 percent in her left eye and 30 percent in her right eye, but luckily this is going well. I walk a lot, I love running and reading and I am busy with my foundation to make stem cell research possible for ADOA.” The only thing that sometimes stops her from chasing her dreams is her lack of energy. “Everyone with ADOA struggles with it. I am learning to sit more often and do nothing for a while. Then I crawl on the couch with my kids and watch a movie. And I avoid too many stressful activities one after the other, because otherwise I'm guaranteed to be sleeping on the couch next to my husband at night. As long as I succeed, I will do what I love.”

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